A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12565



Internal ID11029799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:10413490..10451149hg38UCSC Ensembl
Innerchr12:10566089..10603748hg19UCSC Ensembl
Innerchr12:10457356..10495015hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3837660
hg1937660
hg1837660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv25005
Supporting Variantsessv54992, essv46494, essv82362, essv76352, essv49726, essv32326, essv61985, essv79352, essv58989
SamplesNA12414, NA19114, NA12239, NA19099, NA19108, NA19147, NA18517, NA12749, NA19129
Known GenesKLRC1, KLRC2, KLRC3
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv12565
Frequency
Sample Size40
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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